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    Seymour Packman, MD

    TitleProfessor
    SchoolUCSF School of Medicine
    DepartmentPediatrics
    Address550 16th. Street
    San Francisco CA 94158
    Phone415-476-2871
    vCardDownload vCard

      Collapse Biography 
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      Washington UniversityM.D.School of Medicine1968

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      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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      1. Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med. 2016 Aug 11; 375(6):545-55. PMID: 27509102.
        View in: PubMed
      2. Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF. Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases. Mol Genet Metab. 2016 Jul; 118(3):206-13. PMID: 27198631.
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      3. Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet. 2015 May; 52(5):353-8. PMID: 25795794; PMCID: PMC4413801.
      4. Needham M, Packman W, Quinn N, Rappoport M, Aoki C, Bostrom A, Cordova M, Macias S, Morgan C, Packman S. Health-Related Quality of Life in Patients with MPS II. J Genet Couns. 2015 Aug; 24(4):635-44. PMID: 25395377.
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      5. Needham M, Packman W, Rappoport M, Quinn N, Cordova M, Macias S, Morgan C, Packman S. MPS II: adaptive behavior of patients and impact on the family system. J Genet Couns. 2014 Jun; 23(3):330-8. PMID: 24190099.
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      6. Mendelsohn BA, Mehta N, Hameed B, Pekmezci M, Packman S, Ralph J. Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation. JIMD Rep. 2014; 13:37-41. PMID: 24190800; PMCID: PMC4110326.
      7. Packman W, Crosbie TW, Behnken M, Eudy K, Packman S. Living with Gaucher disease: Emotional health, psychosocial needs and concerns of individuals with Gaucher disease. Am J Med Genet A. 2010 Aug; 152A(8):2002-10. PMID: 20635362.
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      8. Fernández-Guerra P, Navarrete R, Weisiger K, Desviat LR, Packman S, Ugarte M, Rodríguez-Pombo P. Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease. J Inherit Metab Dis. 2010 Dec; 33 Suppl 3:S191-8. PMID: 20431954.
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      9. Wu JC, Ho CY, Skali H, Abichandani R, Wilcox WR, Banikazemi M, Packman S, Sims K, Solomon SD. Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity. Eur Heart J. 2010 May; 31(9):1088-97. PMID: 20061327; PMCID: PMC2912636.
      10. Henderson SL, Packman W, Packman S. Psychosocial aspects of patients with Niemann-Pick disease, type B. Am J Med Genet A. 2009 Nov; 149A(11):2430-6. PMID: 19877061.
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      11. Crosbie TW, Packman W, Packman S. Psychological aspects of patients with Fabry disease. J Inherit Metab Dis. 2009 Dec; 32(6):745-53. PMID: 19924564.
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      12. Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. 2009 Jul; 24(7):2102-11. PMID: 19218538; PMCID: PMC2698092.
      13. Fairley C, Zimran A, Phillips M, Cizmarik M, Yee J, Weinreb N, Packman S. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry. J Inherit Metab Dis. 2008 Dec; 31(6):738-44. PMID: 18979180.
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      14. Klein OD, Kostiner DR, Weisiger K, Moffatt E, Lindeman N, Goodman S, Tuchman M, Packman S. Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male. Hepatol Int. 2008 Sep; 2(3):390-4. PMID: 19669271; PMCID: PMC2716892.
      15. Sims KB, Pastores GM, Weinreb NJ, Barranger J, Rosenbloom BE, Packman S, Kaplan P, Mankin H, Xavier R, Angell J, Fitzpatrick MA, Rosenthal D. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet. 2008 May; 73(5):430-40. PMID: 18312448; PMCID: PMC2440418.
      16. Packman W, Henderson SL, Mehta I, Ronen R, Danner D, Chesterman B, Packman S. Psychosocial issues in families affected by maple syrup urine disease. J Genet Couns. 2007 Dec; 16(6):799-809. PMID: 17703353.
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      17. VanZutphen K, Packman W, Sporri L, Needham M, Morgan C, Weisiger K, Packman S. Executive functioning in children and adolescents with phenylketonuria. Clin Genet. 2007 Jul; 72(1):13-8. PMID: 17594394.
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      18. Weinreb N, Barranger J, Packman S, Prakash-Cheng A, Rosenbloom B, Sims K, Angell J, Skrinar A, Pastores GM. Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease. Clin Genet. 2007 Jun; 71(6):576-88. PMID: 17539908.
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      19. Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med. 2007 Jan 16; 146(2):77-86. PMID: 17179052.
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      20. Urban TJ, Gallagher RC, Brown C, Castro RA, Lagpacan LL, Brett CM, Taylor TR, Carlson EJ, Ferrin TE, Burchard EG, Packman S, Giacomini KM. Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). Mol Pharmacol. 2006 Nov; 70(5):1602-11. PMID: 16931768.
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      21. Packman W, Wilson Crosbie T, Riesner A, Fairley C, Packman S. Psychological complications of patients with Gaucher disease. J Inherit Metab Dis. 2006 Feb; 29(1):99-105. PMID: 16601875.
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      22. Enns GM, Hoppel CL, DeArmond SJ, Schelley S, Bass N, Weisiger K, Horoupian D, Packman S. Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle. Clin Genet. 2005 Oct; 68(4):337-48. PMID: 16143021.
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      23. Sanchez R, Etzell J, Kim G, Packman S, Fairley C, Goldsby R. Pediatric malignancies. Case 2. Peripheral T-cell lymphoma in an adolescent with unsuspected Gaucher disease. J Clin Oncol. 2005 Jul 20; 23(21):4792-3. PMID: 16034056.
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      24. Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. Marinesco-Sjögren syndrome in a male with mild dysmorphism. Am J Med Genet A. 2005 Mar 1; 133A(2):197-201. PMID: 15633176.
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      25. Zlatunich CO, Packman S. Galactosaemia: early treatment with an elemental formula. J Inherit Metab Dis. 2005; 28(2):163-8. PMID: 15877205.
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      26. Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J Pediatr Orthop. 2004 Jan-Feb; 24(1):97-101. PMID: 14676543.
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      27. Takanashi J, Barkovich AJ, Cheng SF, Weisiger K, Zlatunich CO, Mudge C, Rosenthal P, Tuchman M, Packman S. Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. AJNR Am J Neuroradiol. 2003 Jun-Jul; 24(6):1184-7. PMID: 12812952.
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      28. Takanashi J, Barkovich AJ, Dillon WP, Sherr EH, Hart KA, Packman S. T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. AJNR Am J Neuroradiol. 2003 May; 24(5):916-21. PMID: 12748094.
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      29. Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 2003 Mar 25; 60(6):1033-6. PMID: 12654978.
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      30. Takanashi J, Barkovich AJ, Cheng SF, Kostiner D, Baker JC, Packman S. Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency. AJNR Am J Neuroradiol. 2003 Mar; 24(3):390-3. PMID: 12637287.
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      31. Caldovic L, Morizono H, Panglao MG, Cheng SF, Packman S, Tuchman M. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. Hum Genet. 2003 Apr; 112(4):364-8. PMID: 12594532.
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      32. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003 Feb 18; 138(4):338-46. PMID: 12585833.
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      33. Fu X, Rinaldo P, Hahn SH, Kodama H, Packman S. Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes. J Inherit Metab Dis. 2003; 26(1):55-66. PMID: 12872841.
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      34. Seyda A, Chun K, Packman S, Robinson BH. A case of PDH-E1 alpha mosaicism in a male patient with severe metabolic lactic acidosis. J Inherit Metab Dis. 2001 Oct; 24(5):551-9. PMID: 11757583.
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      35. Enns GM, Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA, Packman S. Clinical course and biochemistry of sialuria. J Inherit Metab Dis. 2001 Jun; 24(3):328-36. PMID: 11486897.
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      36. Mathias RS, Kostiner D, Packman S. Hyperammonemia in urea cycle disorders: role of the nephrologist. Am J Kidney Dis. 2001 May; 37(5):1069-80. PMID: 11325692.
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      37. Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest. 2001 Feb; 107(4):495-504. PMID: 11181649; PMCID: PMC199271.
      38. Enns GM, Bennett MJ, Hoppel CL, Goodman SI, Weisiger K, Ohnstad C, Golabi M, Packman S. Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr. 2000 Feb; 136(2):251-4. PMID: 10657835.
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      39. Enns GM, Martinez DR, Kuzmin AI, Koch R, Wakeem CK, Woo SL, Eisensmith RC, Packman S. Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population. Pediatr Res. 1999 Nov; 46(5):594-602. PMID: 10541324.
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      40. Enns GM, Barkovich AJ, Rosenblatt DS, Fredrick DR, Weisiger K, Ohnstad C, Packman S. Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin. J Inherit Metab Dis. 1999 Jun; 22(5):599-607. PMID: 10399092.
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      41. Kuo YM, Gitschier J, Packman S. Developmental expression of the mouse mottled and toxic milk genes. Adv Exp Med Biol. 1999; 448:109-14. PMID: 10079819.
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      42. Howard R, Frieden IJ, Crawford D, McCalmont T, Levy ML, Rosenblatt DS, Sweetman L, Goodman SI, Ohnstad C, Hart K, Berrios M, Packman S. Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations. Arch Dermatol. 1997 Dec; 133(12):1563-6. PMID: 9420542.
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      43. Murata Y, Kodama H, Abe T, Ishida N, Nishimura M, Levinson B, Gitschier J, Packman S. Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease. Pediatr Res. 1997 Oct; 42(4):436-42. PMID: 9380433.
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      44. Levinson B, Packman S, Gitschier J. Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse. Nat Genet. 1997 Jul; 16(3):224-5. PMID: 9207785.
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      45. Kuo YM, Gitschier J, Packman S. Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters. Hum Mol Genet. 1997 Jul; 6(7):1043-9. PMID: 9215673.
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      46. Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kølvraa S, Gregersen N. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? Hum Mol Genet. 1997 May; 6(5):695-707. PMID: 9158144.
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      47. Levinson B, Conant R, Schnur R, Das S, Packman S, Gitschier J. A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. Hum Mol Genet. 1996 Nov; 5(11):1737-42. PMID: 8923001.
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      48. Ferenci P, Gilliam TC, Gitlin JD, Packman S, Schilsky ML, Sokol RJ, Sternlieb I. An international symposium on Wilson's and Menkes' diseases. Hepatology. 1996 Oct; 24(4):952-8. PMID: 8855204.
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      49. Fries MH, Rinaldo P, Schmidt-Sommerfeld E, Jurecki E, Packman S. Isovaleric acidemia: response to a leucine load after three weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy. J Pediatr. 1996 Sep; 129(3):449-52. PMID: 8804338.
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      50. Peters C, Balthazor M, Shapiro EG, King RJ, Kollman C, Hegland JD, Henslee-Downey J, Trigg ME, Cowan MJ, Sanders J, Bunin N, Weinstein H, Lenarsky C, Falk P, Harris R, Bowen T, Williams TE, Grayson GH, Warkentin P, Sender L, Cool VA, Crittenden M, Packman S, Kaplan P, Lockman LA, Anderson J, Krivit W, Dusenbery K, Wagner J. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood. 1996 Jun 1; 87(11):4894-902. PMID: 8639864.
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      51. Mandell R, Packman S, Laframboise R, Golbus MS, Schmidt K, Workman L, Saudubray JM, Shih VE. Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia. Prenat Diagn. 1996 May; 16(5):419-24. PMID: 8843999.
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      52. Kaler SG, Das S, Levinson B, Goldstein DS, Holmes CS, Patronas NJ, Packman S, Gahl WA. Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion. Biochem Mol Med. 1996 Feb; 57(1):37-46. PMID: 8812725.
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      53. Chen E, Nyhan WL, Jakobs C, Greco CM, Barkovich AJ, Cox VA, Packman S. L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J Inherit Metab Dis. 1996; 19(3):335-43. PMID: 8803777.
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      54. Röschinger W, Millington DS, Gage DA, Huang ZH, Iwamoto T, Yano S, Packman S, Johnston K, Berry SA, Sweetman L. 3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase. Clin Chim Acta. 1995 Aug 31; 240(1):35-51. PMID: 8582058.
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      55. Das S, Levinson B, Vulpe C, Whitney S, Gitschier J, Packman S. Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am J Hum Genet. 1995 Mar; 56(3):570-6. PMID: 7887410; PMCID: PMC1801180.
      56. Vulpe CD, Packman S. Cellular copper transport. Annu Rev Nutr. 1995; 15:293-322. PMID: 8527222.
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      57. Das S, Whitney S, Taylor J, Chen E, Levinson B, Vulpe C, Gitschier J, Packman S. Prenatal diagnosis of Menkes disease by mutation analysis. J Inherit Metab Dis. 1995; 18(3):364-5. PMID: 7474910.
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      58. Chen E, Cleaver JE, Weber CA, Packman S, Barkovich AJ, Koch TK, Williams ML, Golabi M, Price VH. Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings. J Invest Dermatol. 1994 Nov; 103(5 Suppl):154S-158S. PMID: 7963680.
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      59. Das S, Levinson B, Whitney S, Vulpe C, Packman S, Gitschier J. Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet. 1994 Nov; 55(5):883-9. PMID: 7977350; PMCID: PMC1918324.
      60. Fries MH, Kuller JA, Jurecki E, Packman S. Prenatal counseling in heterozygotes for ornithine transcarbamylase deficiency. Clin Pediatr (Phila). 1994 Sep; 33(9):525-9. PMID: 8001320.
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      61. Levinson B, Vulpe C, Elder B, Martin C, Verley F, Packman S, Gitschier J. The mottled gene is the mouse homologue of the Menkes disease gene. Nat Genet. 1994 Apr; 6(4):369-73. PMID: 8054976.
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      62. Gacheru S, McGee C, Uriu-Hare JY, Kosonen T, Packman S, Tinker D, Krawetz SA, Reiser K, Keen CL, Rucker RB. Expression and accumulation of lysyl oxidase, elastin, and type I procollagen in human Menkes and mottled mouse fibroblasts. Arch Biochem Biophys. 1993 Mar; 301(2):325-9. PMID: 8096378.
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      63. Koch SE, Packman S, Koch TK, Williams ML. Dermatitis in treated maple syrup urine disease. J Am Acad Dermatol. 1993 Feb; 28(2 Pt 2):289-92. PMID: 8436640.
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      64. Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet. 1993 Jan; 3(1):7-13. PMID: 8490659.
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      65. Levinson B, Gitschier J, Vulpe C, Whitney S, Yang S, Packman S. Are X-linked cutis laxa and Menkes disease allelic? Nat Genet. 1993 Jan; 3(1):6. PMID: 8490656.
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      66. Ferrell L, Schmidt K, Sheffield V, Packman S. Neonatal hemochromatosis: genetic counseling based on retrospective pathologic diagnosis. Am J Med Genet. 1992 Nov 1; 44(4):429-33. PMID: 1442881.
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      67. Koch TK, Schmidt KA, Wagstaff JE, Ng WG, Packman S. Neurologic complications in galactosemia. Pediatr Neurol. 1992 May-Jun; 8(3):217-20. PMID: 1622520.
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      68. Cochran FB, Packman S. Homocystinuria presenting as sagittal sinus thrombosis. Eur Neurol. 1992; 32(1):1-3. PMID: 1563447.
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      69. Lo W, Kadlecek T, Packman S. Biotin transport in the rat central nervous system. J Nutr Sci Vitaminol (Tokyo). 1991 Dec; 37(6):567-72. PMID: 1819645.
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      70. Reichardt JK, Packman S, Woo SL. Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. Am J Hum Genet. 1991 Oct; 49(4):860-7. PMID: 1897530; PMCID: PMC1683190.
      71. Seppala R, Tietze F, Krasnewich D, Weiss P, Ashwell G, Barsh G, Thomas GH, Packman S, Gahl WA. Sialic acid metabolism in sialuria fibroblasts. J Biol Chem. 1991 Apr 25; 266(12):7456-61. PMID: 2019577.
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      72. Castillo RO, Thaler MM, O'Toole C, Packman S. Hepatic copper metabolism in a mouse model for Menkes' kinky hair syndrome. Pediatr Res. 1990 May; 27(5):492-6. PMID: 2345676.
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      73. Cochran FB, Sweetman L, Schmidt K, Barsh G, Kraus J, Packman S. Pyridoxine-unresponsive homocystinuria with an unusual clinical course. Am J Med Genet. 1990 Apr; 35(4):519-22. PMID: 2333882.
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      74. Packman S, Whitney S. Fatty acid transport in multiple carboxylase deficiency fibroblasts. J Inherit Metab Dis. 1990; 13(5):716-20. PMID: 2123277.
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      75. Packman S, Whitney SC, Fitch M, Fleming SE. Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts. J Inherit Metab Dis. 1989; 12(1):47-57. PMID: 2501583.
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      76. Packman S. Regulation of copper metabolism in the mottled mouse. Arch Dermatol. 1987 Nov; 123(11):1545-1547a. PMID: 3674914.
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      77. Hayasaka K, Tada K, Fueki N, Nakamura Y, Nyhan WL, Schmidt K, Packman S, Seashore MR, Haan E, Danks DM. Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases. J Pediatr. 1987 Jun; 110(6):873-7. PMID: 3585602.
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      78. Packman S, Palmiter RD, Karin M, O'Toole C. Metallothionein messenger RNA regulation in the mottled mouse and Menkes kinky hair syndrome. J Clin Invest. 1987 May; 79(5):1338-42. PMID: 3571489; PMCID: PMC424381.
      79. Kretzschmar HA, DeArmond SJ, Koch TK, Patel MS, Newth CJ, Schmidt KA, Packman S. Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease). Pediatrics. 1987 Mar; 79(3):370-3. PMID: 3103091.
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      80. Ho L, Hu CW, Packman S, Patel MS. Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification. J Clin Invest. 1986 Sep; 78(3):844-7. PMID: 3091638; PMCID: PMC423686.
      81. Lipson MH, O'Donnell J, Callahan JW, Wenger DA, Packman S. Ocular involvement in Niemann-Pick disease type B. J Pediatr. 1986 Apr; 108(4):582-4. PMID: 3958834.
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      82. Gonzalez-Rios MC, Chuang DT, Cox RP, Schmidt K, Knopf K, Packman S. A distinct variant of intermediate maple syrup urine disease. Clin Genet. 1985 Feb; 27(2):153-9. PMID: 3978850.
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      83. Gonzalez-Rios MC, Whitney SC, Williams ML, Elias PM, Packman S. Lipid metabolism in biotin-responsive multiple carboxylase deficiency. J Inherit Metab Dis. 1985; 8(4):184-6. PMID: 2878112.
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      84. Packman S, O'Toole C. Trace metal metabolism in cultured skin fibroblasts of the mottled mouse: response to metallothionein inducers. Pediatr Res. 1984 Dec; 18(12):1282-6. PMID: 6542992.
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      85. Johnston K, Newth CJ, Sheu KF, Patel MS, Heldt GP, Schmidt KA, Packman S. Central hypoventilation syndrome in pyruvate dehydrogenase complex deficiency. Pediatrics. 1984 Dec; 74(6):1034-40. PMID: 6438601.
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      86. Sander J, Packman S, Berg BO, Hutchison HT, Caswell N. Pyruvate carboxylase activity in subacute necrotizing encephalopathy (Leigh's disease). Neurology. 1984 Apr; 34(4):515-6. PMID: 6538306.
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      87. Ward P, Packman S, Loughman W, Sparkes M, Sparkes R, McMahon A, Gregory T, Ablin A. Location of the retinoblastoma susceptibility gene(s) and the human esterase D locus. J Med Genet. 1984 Apr; 21(2):92-5. PMID: 6716423; PMCID: PMC1049232.
      88. Lo W, Packman S, Nash S, Schmidt K, Ireland S, Diamond I, Ng W, Donnell G. Curious neurologic sequelae in galactosemia. Pediatrics. 1984 Mar; 73(3):309-12. PMID: 6701054.
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      89. Packman S, Chin P, O'Toole C. Copper utilization in cultured skin fibroblasts of the mottled mouse, an animal model for Menkes' kinky hair syndrome. J Inherit Metab Dis. 1984; 7(4):168-70. PMID: 6441865.
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      90. Packman S, Caswell N, Gonzalez-Rios MC, Kadlecek T, Cann H, Rassin D, McKay C. Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency. Am J Hum Genet. 1984 Jan; 36(1):80-92. PMID: 6141728; PMCID: PMC1684382.
      91. Jakobs C, Sweetman L, Nyhan WL, Packman S. Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism. J Inherit Metab Dis. 1984; 7(1):15-20. PMID: 6429435.
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      92. Packman S, O'Toole C, Price DC, Thaler MM. Cadmium, zinc, and copper metabolism in the mottled mouse, an animal model for Menkes' kinky hair syndrome. J Inorg Biochem. 1983 Nov; 19(3):203-11. PMID: 6685755.
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      93. Williams ML, Packman S, Cowan MJ. Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency. J Am Acad Dermatol. 1983 Jul; 9(1):97-103. PMID: 6886110.
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      94. Newth CJ, Packman S, Bachand RT. Response to almitrine bismesylate in a child with a central alveolar hypoventilation syndrome. Eur J Respir Dis Suppl. 1983; 126:303-6. PMID: 6586445.
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      95. Sander JE, Packman S, Townsend JJ. Brain pyruvate carboxylase and the pathophysiology of biotin-dependent diseases. Neurology. 1982 Aug; 32(8):878-80. PMID: 7201583.
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      96. Packman S, Cowan MJ, Golbus MS, Caswell NM, Sweetman L, Burri BJ, Nyhan WL, Baker H. Prenatal treatment of biotin responsive multiple carboxylase deficiency. Lancet. 1982 Jun 26; 1(8287):1435-8. PMID: 6123722.
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      97. Packman S, Caswell NM, Baker H. Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency. Biochem Genet. 1982 Feb; 20(1-2):17-28. PMID: 6807281.
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      98. Packman S, Sweetman L, Baker H, Wall S. The neonatal form of biotin-responsive multiple carboxylase deficiency. J Pediatr. 1981 Sep; 99(3):418-20. PMID: 7264798.
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      99. Packman S, Sweetman L, Yoshino M, Baker H, Cowan M. Biotin-responsive multiple carboxylase deficiency of infantile onset. J Pediatr. 1981 Sep; 99(3):421-3. PMID: 7264799.
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      100. Mitchell JA, Packman S, Loughman WD, Fineman RM, Zackai E, Patil SR, Emanual B, Bartley JA, Hanson JW. Deletions of different segments of the long arm of chromosome 4. Am J Med Genet. 1981; 8(1):73-89. PMID: 7246608.
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      101. Sander JE, Malamud N, Cowan MJ, Packman S, Amman AJ, Wara DW. Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder. Ann Neurol. 1980 Nov; 8(5):544-7. PMID: 7436398.
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      102. Cowan MJ, Wara DW, Packman S, Ammann AJ, Yoshino M, Sweetman L, Nyhan W. Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity. Lancet. 1979 Jul 21; 2(8134):115-8. PMID: 88554.
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      103. Packman S. Empiric risk counseling: a perspective. Birth Defects Orig Artic Ser. 1979; 15(5C):69-70. PMID: 526616.
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      104. Kraus J, Packman S, Fowler B, Rosenberg LE. Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits. J Biol Chem. 1978 Sep 25; 253(18):6523-8. PMID: 681363.
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      105. Packman S, Mahoney MJ, Tanaka K, Hsia YE. Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency. J Pediatr. 1978 May; 92(5):769-71. PMID: 25314.
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      106. Fowler B, Kraus J, Packman S, Rosenberg LE. Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts. J Clin Invest. 1978 Mar; 61(3):645-53. PMID: 641146; PMCID: PMC372577.
      107. Fulton AB, Howard RO, Albert DM, Hsia YE, Packman S. Ocular findings in triploidy. Am J Ophthalmol. 1977 Dec; 84(6):859-67. PMID: 413437.
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      108. Honjo T, Swan D, Packman S, Polsky F, Leder P. Purification and translation of an immunoglobulin lambda chain messenger RNA from mouse myeloma. Biochemistry. 1976 Jun 29; 15(13):2775-9. PMID: 59605.
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      109. Honjo T, Packman S. Quantitation of constant and variable region genes for mouse immunoglobulin lambda chains. Biochemistry. 1976 Jun 29; 15(13):2780-5. PMID: 820372.
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      110. Ross J, Ikawa Y, Gielen J, Packman S, Leder P. Induction of globin mRNA in Friend leukemia virus-infected cells and its presence in viral 60S RNA. Bibl Haematol. 1975; (40):205-20. PMID: 1172437.
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      111. Leder P, Honjo T, Packman S, Swan D, Nau M, Norman B. The organization and diversity of immunoglobulin genes. Proc Natl Acad Sci U S A. 1974 Dec; 71(12):5109-15. PMID: 4531042; PMCID: PMC434049.
      112. Honjo T, Packman S, Swan D, Nau M, Leder P. Organization of immunoglobulin genes: reiteration frequency of the mouse kappa chain constant region gene. Proc Natl Acad Sci U S A. 1974 Sep; 71(9):3659-63. PMID: 4215083; PMCID: PMC433835.
      113. Ross J, Gielen J, Packman S, Ikawa Y, Leder P. Globin gene expression in cultured erythroleukemic cells. J Mol Biol. 1974 Aug 25; 87(4):697-714. PMID: 4530120.
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      114. Aviv H, Packman S, Ross J, Swan D, Gielen J, Leder P. DNA complementary to globin and immunoglobulin mRNA: a probe to study gene expression. Adv Exp Med Biol. 1974 Jun; 44(1):141-52. PMID: 4135152.
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      115. Leder P, Ross J, Gielen J, Packman S, Ikawa Y, Aviv H, Swan D. Regulated expression of mammalian genes: globin and immunoglobulin as model systems. Cold Spring Harb Symp Quant Biol. 1974; 38:753-61. PMID: 4133990.
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      116. Aviv H, Packman S, Swan D, Ross J, Leder P. In vitro synthesis of DNA complementary to mRNA derived from a light chain-producing myeloma tumour. Nat New Biol. 1973 Feb 7; 241(110):174-6. PMID: 4121679.
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      117. Packman S, Aviv H, Ross J, Leder P. A comparison of globin genes in duck reticulocytes and liver cells. Biochem Biophys Res Commun. 1972 Nov 1; 49(3):813-9. PMID: 4638756.
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      118. Packman S, Sly WS. Constitutive lambda DNA replication by lambda-C17, a regulatory mutant related to virulence. Virology. 1968 Apr; 34(4):778-89. PMID: 4870395.
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